Incidental Mutation 'R8739:Pcdhb11'
| ID |
663253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pcdhb11
|
| Ensembl Gene |
ENSMUSG00000051486 |
| Gene Name |
protocadherin beta 11 |
| Synonyms |
PcdhbK, Pcdhb5E |
| MMRRC Submission |
068586-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R8739 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
37554471-37558085 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 37555549 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Lysine
at position 293
(I293K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000056148
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000053073]
[ENSMUST00000115661]
[ENSMUST00000194544]
|
| AlphaFold |
Q91UZ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000053073
AA Change: I293K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056148
Gene: ENSMUSG00000051486
AA Change: I293K
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
54 |
131 |
3.51e-1 |
SMART |
|
CA
|
155 |
240 |
4.11e-21 |
SMART |
|
CA
|
264 |
344 |
6.37e-27 |
SMART |
|
CA
|
367 |
448 |
4.79e-22 |
SMART |
|
CA
|
472 |
558 |
7.31e-27 |
SMART |
|
CA
|
588 |
669 |
2.46e-10 |
SMART |
|
Pfam:Cadherin_C_2
|
686 |
769 |
3.4e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115661
|
| SMART Domains |
Protein: ENSMUSP00000111325
Gene: ENSMUSG00000103458
| Domain | Start | End | E-Value | Type |
|---|
|
CA
|
20 |
131 |
5.3e-2 |
SMART |
|
CA
|
155 |
240 |
1.51e-19 |
SMART |
|
CA
|
264 |
348 |
7.6e-25 |
SMART |
|
CA
|
372 |
453 |
1.42e-24 |
SMART |
|
CA
|
477 |
563 |
1.42e-24 |
SMART |
|
CA
|
594 |
674 |
4.12e-12 |
SMART |
|
low complexity region
|
706 |
721 |
N/A |
INTRINSIC |
|
Pfam:Cadherin_tail
|
796 |
930 |
3.9e-58 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000193984
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194544
|
| SMART Domains |
Protein: ENSMUSP00000141847
Gene: ENSMUSG00000102836
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:CA
|
18 |
66 |
5e-20 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam24 |
T |
C |
8: 41,133,480 (GRCm39) |
V316A |
possibly damaging |
Het |
| Adamts9 |
T |
C |
6: 92,831,261 (GRCm39) |
E1364G |
probably benign |
Het |
| Agrn |
C |
T |
4: 156,257,045 (GRCm39) |
R1233Q |
probably benign |
Het |
| Ankrd6 |
A |
G |
4: 32,806,337 (GRCm39) |
S639P |
possibly damaging |
Het |
| Arid5a |
A |
G |
1: 36,358,677 (GRCm39) |
N418S |
probably benign |
Het |
| Cep152 |
T |
C |
2: 125,461,975 (GRCm39) |
E69G |
probably benign |
Het |
| Chrnb2 |
A |
G |
3: 89,669,746 (GRCm39) |
S109P |
probably damaging |
Het |
| Chuk |
A |
G |
19: 44,077,135 (GRCm39) |
S404P |
probably benign |
Het |
| Clec4a3 |
T |
C |
6: 122,944,508 (GRCm39) |
Y185H |
probably damaging |
Het |
| Dctd |
T |
A |
8: 48,591,883 (GRCm39) |
L149H |
probably benign |
Het |
| Dgkb |
T |
A |
12: 38,278,323 (GRCm39) |
|
probably benign |
Het |
| Dhrs13 |
G |
C |
11: 77,923,492 (GRCm39) |
R70P |
possibly damaging |
Het |
| Dnah5 |
G |
A |
15: 28,346,006 (GRCm39) |
A2449T |
probably benign |
Het |
| Dync1h1 |
T |
C |
12: 110,581,014 (GRCm39) |
V247A |
probably damaging |
Het |
| Eef1ece2 |
G |
A |
16: 20,449,665 (GRCm39) |
|
probably benign |
Het |
| Espnl |
T |
A |
1: 91,272,317 (GRCm39) |
L559Q |
probably damaging |
Het |
| Gak |
A |
G |
5: 108,739,604 (GRCm39) |
V627A |
possibly damaging |
Het |
| Gcnt1 |
A |
T |
19: 17,307,437 (GRCm39) |
M96K |
probably benign |
Het |
| Ggta1 |
T |
C |
2: 35,292,572 (GRCm39) |
D245G |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,046,371 (GRCm39) |
F505Y |
probably damaging |
Het |
| Inpp4a |
A |
G |
1: 37,422,207 (GRCm39) |
|
probably benign |
Het |
| Kcnj14 |
C |
G |
7: 45,468,812 (GRCm39) |
R231P |
probably damaging |
Het |
| Lamc2 |
A |
T |
1: 153,020,399 (GRCm39) |
C382* |
probably null |
Het |
| Marveld3 |
T |
C |
8: 110,688,609 (GRCm39) |
E44G |
possibly damaging |
Het |
| Mettl17 |
T |
C |
14: 52,128,848 (GRCm39) |
F373L |
possibly damaging |
Het |
| Morc3 |
T |
A |
16: 93,657,398 (GRCm39) |
L374Q |
probably damaging |
Het |
| Muc16 |
C |
T |
9: 18,548,594 (GRCm39) |
D5900N |
probably benign |
Het |
| Myo15a |
A |
G |
11: 60,368,088 (GRCm39) |
N283D |
probably benign |
Het |
| Ncapg2 |
T |
G |
12: 116,379,098 (GRCm39) |
D197E |
possibly damaging |
Het |
| Nipbl |
T |
C |
15: 8,332,904 (GRCm39) |
T2240A |
probably benign |
Het |
| Nrip1 |
A |
C |
16: 76,088,236 (GRCm39) |
V1107G |
possibly damaging |
Het |
| Or13a19 |
T |
C |
7: 139,902,647 (GRCm39) |
F12L |
probably damaging |
Het |
| Or4d5 |
G |
A |
9: 40,012,636 (GRCm39) |
T50I |
probably benign |
Het |
| Or4f52 |
C |
A |
2: 111,061,834 (GRCm39) |
M101I |
probably benign |
Het |
| Pcsk5 |
G |
T |
19: 17,432,138 (GRCm39) |
H1492Q |
probably benign |
Het |
| Pdcd4 |
T |
A |
19: 53,899,405 (GRCm39) |
Y131* |
probably null |
Het |
| Pdf |
T |
A |
8: 107,773,796 (GRCm39) |
M216L |
probably damaging |
Het |
| Pira13 |
A |
T |
7: 3,828,188 (GRCm39) |
S40T |
|
Het |
| Plch1 |
T |
C |
3: 63,778,106 (GRCm39) |
H17R |
possibly damaging |
Het |
| Prkdc |
T |
G |
16: 15,626,068 (GRCm39) |
S3365A |
probably benign |
Het |
| Rab3c |
T |
C |
13: 110,397,135 (GRCm39) |
T44A |
probably damaging |
Het |
| Rad17 |
T |
C |
13: 100,765,998 (GRCm39) |
T377A |
probably benign |
Het |
| Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
| Rnf215 |
T |
G |
11: 4,085,959 (GRCm39) |
|
probably null |
Het |
| Sec31b |
G |
A |
19: 44,507,620 (GRCm39) |
T808I |
probably benign |
Het |
| Selenbp1 |
A |
T |
3: 94,844,601 (GRCm39) |
D86V |
probably damaging |
Het |
| Smurf2 |
G |
T |
11: 106,743,322 (GRCm39) |
Y241* |
probably null |
Het |
| Spint1 |
T |
C |
2: 119,079,286 (GRCm39) |
V456A |
possibly damaging |
Het |
| Spmap2 |
G |
T |
10: 79,419,581 (GRCm39) |
N240K |
possibly damaging |
Het |
| Stx5a |
A |
T |
19: 8,725,924 (GRCm39) |
I175F |
probably damaging |
Het |
| Tenm4 |
C |
T |
7: 96,555,148 (GRCm39) |
P2618S |
probably benign |
Het |
| Tfb1m |
T |
C |
17: 3,569,927 (GRCm39) |
E313G |
probably benign |
Het |
| Thrb |
A |
G |
14: 17,963,082 (GRCm38) |
D15G |
probably benign |
Het |
| Tln2 |
T |
C |
9: 67,165,555 (GRCm39) |
K1045R |
probably damaging |
Het |
| Tmx2 |
T |
C |
2: 84,505,745 (GRCm39) |
|
probably benign |
Het |
| Trabd |
T |
C |
15: 88,969,152 (GRCm39) |
I192T |
probably damaging |
Het |
| Try5 |
T |
A |
6: 41,288,637 (GRCm39) |
D194V |
probably damaging |
Het |
| Ttc21a |
A |
G |
9: 119,796,371 (GRCm39) |
N1263S |
probably benign |
Het |
| Ttll13 |
T |
C |
7: 79,902,923 (GRCm39) |
I197T |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,540,643 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Pcdhb11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00321:Pcdhb11
|
APN |
18 |
37,555,026 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL00906:Pcdhb11
|
APN |
18 |
37,555,174 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01610:Pcdhb11
|
APN |
18 |
37,556,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01973:Pcdhb11
|
APN |
18 |
37,556,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01977:Pcdhb11
|
APN |
18 |
37,555,344 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02164:Pcdhb11
|
APN |
18 |
37,556,412 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02282:Pcdhb11
|
APN |
18 |
37,556,881 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02674:Pcdhb11
|
APN |
18 |
37,556,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02965:Pcdhb11
|
APN |
18 |
37,557,021 (GRCm39) |
missense |
probably benign |
|
|
IGL03197:Pcdhb11
|
APN |
18 |
37,555,477 (GRCm39) |
nonsense |
probably null |
|
|
1mM(1):Pcdhb11
|
UTSW |
18 |
37,557,010 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0001:Pcdhb11
|
UTSW |
18 |
37,557,042 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0383:Pcdhb11
|
UTSW |
18 |
37,556,446 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0421:Pcdhb11
|
UTSW |
18 |
37,555,533 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0422:Pcdhb11
|
UTSW |
18 |
37,554,923 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0427:Pcdhb11
|
UTSW |
18 |
37,555,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0542:Pcdhb11
|
UTSW |
18 |
37,556,887 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0620:Pcdhb11
|
UTSW |
18 |
37,554,864 (GRCm39) |
nonsense |
probably null |
|
|
R1014:Pcdhb11
|
UTSW |
18 |
37,556,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1277:Pcdhb11
|
UTSW |
18 |
37,554,769 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2034:Pcdhb11
|
UTSW |
18 |
37,555,546 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2142:Pcdhb11
|
UTSW |
18 |
37,555,176 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2496:Pcdhb11
|
UTSW |
18 |
37,555,375 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3077:Pcdhb11
|
UTSW |
18 |
37,555,297 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4560:Pcdhb11
|
UTSW |
18 |
37,556,787 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R4590:Pcdhb11
|
UTSW |
18 |
37,555,549 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4642:Pcdhb11
|
UTSW |
18 |
37,555,021 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4729:Pcdhb11
|
UTSW |
18 |
37,555,419 (GRCm39) |
nonsense |
probably null |
|
|
R5012:Pcdhb11
|
UTSW |
18 |
37,556,029 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R5364:Pcdhb11
|
UTSW |
18 |
37,555,232 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5910:Pcdhb11
|
UTSW |
18 |
37,556,796 (GRCm39) |
missense |
probably benign |
0.43 |
|
R6023:Pcdhb11
|
UTSW |
18 |
37,555,978 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6106:Pcdhb11
|
UTSW |
18 |
37,556,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6254:Pcdhb11
|
UTSW |
18 |
37,554,771 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6276:Pcdhb11
|
UTSW |
18 |
37,554,813 (GRCm39) |
missense |
probably benign |
0.36 |
|
R6360:Pcdhb11
|
UTSW |
18 |
37,555,212 (GRCm39) |
missense |
probably benign |
|
|
R6699:Pcdhb11
|
UTSW |
18 |
37,555,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6732:Pcdhb11
|
UTSW |
18 |
37,555,197 (GRCm39) |
missense |
probably benign |
|
|
R6760:Pcdhb11
|
UTSW |
18 |
37,554,637 (GRCm39) |
intron |
probably benign |
|
|
R6916:Pcdhb11
|
UTSW |
18 |
37,555,434 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7130:Pcdhb11
|
UTSW |
18 |
37,556,559 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7267:Pcdhb11
|
UTSW |
18 |
37,555,006 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7426:Pcdhb11
|
UTSW |
18 |
37,556,313 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7444:Pcdhb11
|
UTSW |
18 |
37,555,672 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7492:Pcdhb11
|
UTSW |
18 |
37,556,497 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7504:Pcdhb11
|
UTSW |
18 |
37,554,852 (GRCm39) |
missense |
probably benign |
|
|
R7537:Pcdhb11
|
UTSW |
18 |
37,554,672 (GRCm39) |
start codon destroyed |
possibly damaging |
0.88 |
|
R7728:Pcdhb11
|
UTSW |
18 |
37,556,530 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7817:Pcdhb11
|
UTSW |
18 |
37,556,962 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8071:Pcdhb11
|
UTSW |
18 |
37,555,422 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8229:Pcdhb11
|
UTSW |
18 |
37,555,671 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8254:Pcdhb11
|
UTSW |
18 |
37,555,242 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8356:Pcdhb11
|
UTSW |
18 |
37,555,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8957:Pcdhb11
|
UTSW |
18 |
37,555,872 (GRCm39) |
missense |
probably benign |
0.09 |
|
R8957:Pcdhb11
|
UTSW |
18 |
37,554,692 (GRCm39) |
missense |
probably benign |
0.43 |
|
R8964:Pcdhb11
|
UTSW |
18 |
37,556,660 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8966:Pcdhb11
|
UTSW |
18 |
37,556,037 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R9188:Pcdhb11
|
UTSW |
18 |
37,556,188 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9253:Pcdhb11
|
UTSW |
18 |
37,554,529 (GRCm39) |
intron |
probably benign |
|
|
R9632:Pcdhb11
|
UTSW |
18 |
37,556,019 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACATTGAAGTCGTGGACATC -3'
(R):5'- AGTCTCGGCGGAATTTTCC -3'
Sequencing Primer
(F):5'- GTCGTGGACATCAATGATAACGCC -3'
(R):5'- GACTGTGAGCTTCCTGATCATCAAC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation